Submissions for variant NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)

dbSNP: rs141674976

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000416194	SCV000493466	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000425316	SCV000515293	benign	not specified	2015-06-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085646	SCV000555862	likely benign	Mowat-Wilson syndrome	2024-01-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000416194	SCV000706283	uncertain significance	not provided	2017-03-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001085646	SCV002045598	likely benign	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950327	SCV004757316	likely benign	ZEB2-related disorder	2023-03-29	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).